Table 2.
Results for single nucleotide variantsa identified by whole-exome sequencing and genotyped in 270 independent HPC families of European ancestry
| Discovery | Validation | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Gene | Genomic Position (hg19) | Variant and rs ID | Protein | MAF in ESP | MAF in ClinSeq | No. of WES families with carriers (Aff/Unaff)b | No. (%) of 270 families with affected carriers | MAF in 819 genotyped affected menc | MAF in 496 genotyped unaffected menc | P-valued |
| BTNL2 | Chr6: 32,363,888 | C>T rs41441651 | Missense: p.Asp336Asn | 0.009 | 0.005 | 2 (10/0) | 9 (3.33) | 0.0073 | 0 | 0.0032 |
| BTNL2 | Chr6: 32,362,521 | C>A rs28362675 | Missense: p.Gly454Cys | 0.008 | 0.005 | 2 (10/0) | 8 (2.96) | 0.0061 | 0 | 0.0070 |
a
Top ranked (P < 0.05) single nucleotide variants identified by whole-exome sequencing (WES) of 19 HPC families.
b
Aff = number of affected carriers / Unaff = number of unaffected carriers.
c
The number of affected carriers for rs41441651 and rs28362675 is 12 and 10, respectively, in the 270 independent HPC families.
d
Monte-Carlo based one-sided P-value from the PedGenie chi-square test for association based on the 270 independent HPC families.